Summary Statistics
1,071
Total Genes
368
Panel Genes
1,005
With Coordinates
1,001
MANE Select
21
MANE Clinical
Data Source Analysis
9
Unique Sources
2.0
Avg Sources/Gene
8
Max Sources/Gene
Source Contributions
HPO_Neoplasm
53.2%
570 genes
Commercial_Panels
49.8%
533 genes
Inhouse_Panels
24.3%
260 genes
PanelApp
17.9%
192 genes
Manual_Curation
11.9%
127 genes
ClinGen
10.7%
115 genes
COSMIC_Germline
10.3%
110 genes
TheGenCC
9.7%
104 genes
ACMG_Incidental_Findings
7.6%
81 genes
Data Visualizations
Score Distribution
Gene Size Distribution
Source Count Distribution
Transcript Size Distribution
Gene Data Table
Interactive table showing all genes with sorting, filtering, and search capabilities. Use the search box to find genes by name, score values, source information, inclusion reasons, or any other field data.
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SNP Analysis
1,810
Total SNPs
5
SNP Categories
1,806
With Coordinates
99.8%
Annotation Rate
SNP Categories
Identity
203 SNPs
11.2% of total
Ethnicity
79 SNPs
4.4% of total
Prs
922 SNPs
50.9% of total
Manual Snps
19 SNPs
1.0% of total
Deep Intronic Clinvar
587 SNPs
32.4% of total
SNP Data Tables
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Regions Analysis
73
Total Regions
2
Region Types
543.2 KB
Total Coverage (MB)
Region Categories
manual
7 regions
stripy
66 regions
Regions Data Tables
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